Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report

BackgroundChildhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon.Case presentationA 28months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis.ConclusionsCystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

Automated summary

Childhood hypoglycemia with hepatomegaly may indicate inborn errors of metabolism, while cystic fibrosis typically presents with failure to thrive and pulmonary symptoms. In rare cases, cystic fibrosis can also lead to hepatic involvement and hypoglycemia, as seen in the 28-month-old boy described in the case presentation. Treatment with starch to control hypoglycemia was initiated, but further complications such as loose stools and reduced pancreatic elastase were observed, leading to the diagnosis of cystic fibrosis through genetic testing and sweat tests.